Rare Diseases Symptoms Automatic Extraction

Elevated serum prolactin concentrations in phenylketonuric patients on a 'loose diet'.

[classical phenylketonuria]

High levels of phenylalanine (Phe) have been shown to reduce dopamine (DA) and noradrenaline (NA) production. We have therefore evaluated whether increased serum Phe concentrations lead to increased prolactin (PRL) secretion in phenylketonuria.Forty-two patients with classical phenylketonuria were divided into two groups. Group A (n = 19) adhered very strictly to their special diet (Phe = 0.09 +/- 0.039 mmol/l) and Group B (n = 23) were on a 'loose diet' (Phe = 0.77 +/- 0.45 mmol/l). Thirty healthy children of comparable age served as controls.PRL was measured by RIA, and Phe and tyrosine (Tyr) with an amino-acid autoanalyser. Adrenaline (A), noradrenaline (NA), and dopamine (DA) were measured by HPLC.Serum PRL in group B patients (1595 +/- 57 mU/l) was significantly raised compared to Group A patients (243 +/- 57 mU/l) and controls (201 +/- 55 mU/l) (P < 0.001). Serum DA, A and NA in group B were lower than in group A patients and controls. Serum Phe in group B patients was significantly correlated to serum PRL (r = 0.59) and DA (r = -0.41). Irregular menses were observed in 1/10 women from group A but in 10/13 in group B.High serum phenylalanine concentrations in phenylketonuric patients not strictly adhering to their diets are correlated with high serum PRL and low serum dopamine concentrations, and a high prevalence of menstrual irregularities.

Diseases presenting "high levels" symptom

  • 22q11.2 deletion syndrome
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aromatase deficiency
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • liposarcoma
  • papillon-lefèvre syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • scrub typhus
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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